Seger Reinhard A
Division Immunology/Haematology, University Children's Hospital of Zurich, Zurich, Switzerland.
Br J Haematol. 2008 Feb;140(3):255-66. doi: 10.1111/j.1365-2141.2007.06880.x.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytic cells resulting in failure to kill a characteristic spectrum of bacteria and fungi and in defective degradation of inflammatory mediators with concomitant granuloma formation. Current prophylaxis with trimethoprim-sulfamethoxazole, itraconazole and in selected cases additional interferon gamma is efficient, but imperfect. A significant recent progress towards new antibiotic (e.g. linezolid) and antifungal (e.g. voriconazole and posaconazole) therapy will allow survival of most patients into adulthood. Adolescent and adult CGD is increasingly characterized by inflammatory complications, such as granulomatous lung and inflammatory bowel disease, requiring immunosupressive therapy. Allogeneic haematopoietic stem cell transplantation from a human leucocyte antigen identical donor is currently the only proven curative treatment for CGD and can be offered to the selected patients. Gene-replacement therapy for patients lacking a suitable stem cell donor is still experimental and faces major obstacles and risks. However, it may offer some transitory benefits and has helped in a few cases to overcome life-threatening infections.
慢性肉芽肿病（CGD）是一种罕见的吞噬细胞原发性免疫缺陷疾病，可导致无法杀灭特定种类的细菌和真菌，以及炎症介质降解缺陷并伴有肉芽肿形成。目前使用甲氧苄啶 - 磺胺甲恶唑、伊曲康唑进行预防，在某些情况下联合使用干扰素γ是有效的，但并不完美。近期在新型抗生素（如利奈唑胺）和抗真菌药物（如伏立康唑和泊沙康唑）治疗方面取得了显著进展，这将使大多数患者存活至成年期。青少年和成人CGD越来越多地表现为炎症并发症，如肉芽肿性肺病和炎症性肠病，需要进行免疫抑制治疗。来自人类白细胞抗原匹配供体的异基因造血干细胞移植是目前唯一被证实可治愈CGD的治疗方法，可提供给选定的患者。对于缺乏合适干细胞供体的患者，基因替代疗法仍处于实验阶段，面临重大障碍和风险。然而，它可能会带来一些短暂的益处，并在少数情况下帮助患者克服危及生命的感染。
